Rare diseases 

Rare diseases are among the hardest to diagnose. We believe medical doctors would benefit from an organised list of disorders from the disparate organisations and medical resources available. In the same way NORD and Eurodis provide information and support for patients, we collaborate with and provide information for health researchers and professionals. From here you can browse orphan, genetic or rare disorders along with summary statistics and links to further information.


Rare Diseases by name

Name
AURICULOCONDYLAR SYNDROME 2; ARCND2
AUTISM, SUSCEPTIBILITY TO, 16; AUTS16
AUTISM, SUSCEPTIBILITY TO, 17; AUTS17
AUTISM, SUSCEPTIBILITY TO, 18; AUTS18
AUTISM, SUSCEPTIBILITY TO, 3; AUTS3
AUTISM, SUSCEPTIBILITY TO, X-LINKED 1; AUTSX1
AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2
AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4
AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK
AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC
AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED; APLAID
AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME; ALDD
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL